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Select item 96904801.

Congenital Heart Diseases: Genetic Risk Variants and Their Methylation Status

Melissa Calzada-Dávila, Geovana Calvo-Anguiano, Laura E. Martínez-de-Villarreal, José J. Lugo-Trampe, Sandra M. González-Peña, Patricia R. Ancer-Rodríguez, María D. Hernández-Almaguer, Luis D. Campos-Acevedo

Genes (Basel) 2022 Nov; 13(11): 2115. Published online 2022 Nov 15. doi: 10.3390/genes13112115

PMCID:: PMC9690480

Abstract Article PDF–259K

Select item 94083312.

Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population

Nadeem Ul Nazeer, Mohammad Akbar Bhat, Bilal Rah, Gh Rasool Bhat, Shadil Ibrahim Wani, Adfar Yousuf, Abdul Majeed Dar, Dil Afroze

Int J Environ Res Public Health. 2022 Aug; 19(16): 9884. Published online 2022 Aug 11. doi: 10.3390/ijerph19169884

PMCID:: PMC9408331

Abstract Article PDF–5.1M

Select item 81869003.

SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients

Fei Liang, Bo Wang, Juan Geng, Guoling You, Jingjing Fa, Min Zhang, Hunying Sun, Huiwen Chen, Qihua Fu, Xiaoqing Zhang, Zhen Zhang

eLife. 2021; 10: e67481. Published online 2021 Jun 8. doi: 10.7554/eLife.67481

PMCID:: PMC8186900

Abstract Article PDF–6.2M

Select item 74505774.

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG

Davide Villa, Claudia Cinnante, Gloria Valcamonica, Giulia Manenti, Silvia Lanfranconi, Annalisa Colombi, Isabella Ghione, Maria Cristina Saetti, Mario D’Amico, Sara Bonato, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi

BMC Neurol. 2020; 20: 316. Published online 2020 Aug 26. doi: 10.1186/s12883-020-01890-2

PMCID:: PMC7450577

Abstract Article PDF–1.2M

Select item 73557725.

Endothelial Dysfunction May Link Interatrial Septal Abnormalities and MTHFR-Inherited Defects to Cryptogenic Stroke Predisposition

Luca Sgarra, Alessandro Santo Bortone, Maria Assunta Potenza, Carmela Nacci, Maria Antonietta De Salvia, Tommaso Acquaviva, Emanuela De Cillis, Marco Matteo Ciccone, Massimo Grimaldi, Monica Montagnani

Biomolecules. 2020 Jun; 10(6): 861. Published online 2020 Jun 4. doi: 10.3390/biom10060861

PMCID:: PMC7355772

Abstract Article PDF–1.6M

Select item 72687856.

Tbx5 inhibits hedgehog signaling in determination of digit identity

Huiting Xu, Menglan Xiang, Yushu Qin, Henghui Cheng, Duohua Chen, Qiang Fu, Ke K Zhang, Linglin Xie

Hum Mol Genet. 2020 Jun 3; 29(9): 1405–1416. Published online 2019 Aug 2. doi: 10.1093/hmg/ddz185

PMCID:: PMC7268785

Abstract Article PDF–1.7M

Select item 69316867.

Electro‐vectorcardiographic demonstration of bifascicular block associated with ventricular preexcitation

Andrés R. Pérez‐Riera, Raimundo Barbosa‐Barros, Rodrigo Daminello‐Raimundo, Luiz Carlos de Abreu, Kjell Nikus

Ann Noninvasive Electrocardiol. 2019 Mar; 24(2): e12550. Published online 2018 Apr 19. doi: 10.1111/anec.12550

PMCID:: PMC6931686

Abstract Article PDF–451K

Select item 64581408.

A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function

Akram Yazdani, Azam Yazdani, Raúl Méndez Giráldez, David Aguilar, Luca Sartore

Sci Rep. 2019; 9: 5845. Published online 2019 Apr 10. doi: 10.1038/s41598-019-41362-3

PMCID:: PMC6458140

Abstract Article PDF–1.8M

Select item 62968829.

Early Infantile Onset Epileptic Encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy

Mariska Davids, Thomas Markello, Lynne A. Wolfe, Xenia Chepa-Lotrea, Cynthia J. Tifft, William A. Gahl, May Christine Malicdan

Hum Mutat. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Hum Mutat. 2019 Jan; 40(1): 42–47. Published online 2018 Nov 18. doi: 10.1002/humu.23675

PMCID:: PMC6296882

Abstract Article PDF–1.0M

Select item 617699010.

RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects

Bum Jun Kim, Hitisha P. Zaveri, Valerie K. Jordan, Andres Hernandez-Garcia, Daron J. Jacob, Diana L. Zamora, Wei Yu, Robert J. Schwartz, Daryl A. Scott

Dis Model Mech. 2018 Sep 1; 11(9): dmm031534. Published online 2018 Aug 28. doi: 10.1242/dmm.031534

PMCID:: PMC6176990

Abstract Article

Select item 589532211.

Recurrent left atrial myxoma in Carney complex: A case report of a familial pedigree

Liaoyuan Wang, Qing Wang, Yue Zhou, Qian Xue, Xiao Sun, Zhinong Wang, Guangyu Ji

Medicine (Baltimore) 2018 Mar; 97(12): e0247. Published online 2018 Mar 23. doi: 10.1097/MD.0000000000010247

PMCID:: PMC5895322

Abstract Article PDF–868K

Select item 485370412.

A gain-of-function ACTC1 3′UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect

Ye Wang, Xinwei Du, Zaiwei Zhou, Jun Jiang, Zhen Zhang, Lincai Ye, Haifa Hong

Sci Rep. 2016; 6: 25404. Published online 2016 May 3. doi: 10.1038/srep25404

PMCID:: PMC4853704

Abstract Article PDF–767K

Select item 453006413.

Tbx5 and Osr1 interact to regulate posterior second heart field cell cycle progression for cardiac septation

Lun Zhou, Jielin Liu, Patrick Olson, Ke Zhang, Joshua Wynne, Linglin Xie

J Mol Cell Cardiol. Author manuscript; available in PMC 2016 Aug 1.

Published in final edited form as: J Mol Cell Cardiol. 2015 Aug; 85: 1–12. Published online 2015 May 16. doi: 10.1016/j.yjmcc.2015.05.005

PMCID:: PMC4530064

Abstract Article PDF–1.0M

Select item 437739114.

Congenital Heart Defects Are Rarely Caused by Mutations in Cardiac and Smooth Muscle Actin Genes

Tatiana Khodyuchenko, Anna Zlotina, Tatiana Pervunina, Dmitry Zverev, Anna Malashicheva, Anna Kostareva

Biomed Res Int. 2015; 2015: 127807. Published online 2015 Mar 10. doi: 10.1155/2015/127807

PMCID:: PMC4377391

Abstract Article PDF–465K

Select item 416259715.

Foramen Ovale Closure Is a Process of Endothelial-to-Mesenchymal Transition Leading to Fibrosis

Graeme C. Elliott, Rockesh Gurtu, Charles McCollum, William G. Newman, Tao Wang

PLoS One. 2014; 9(9): e107175. Published online 2014 Sep 12. doi: 10.1371/journal.pone.0107175

PMCID:: PMC4162597

Abstract Article PDF–5.1M

Select item 382233316.

Expression of the BMP Receptor Alk3 in the Second Heart Field is Essential for Development of the Dorsal Mesenchymal Protrusion and Atrioventricular Septation

Laura E. Briggs, Aimee L. Phelps, Elizabeth Brown, Jayant Kakarla, Robert H. Anderson, Maurice J. B. van den Hoff, Andy Wessels

Circ Res. Author manuscript; available in PMC 2014 May 24.

Published in final edited form as: Circ Res. 2013 May 24; 112(11): 10.1161/CIRCRESAHA.112.300821. Published online 2013 Apr 12. doi: 10.1161/CIRCRESAHA.112.300821

PMCID:: PMC3822333

Abstract Article PDF–4.6M

Select item 357306117.

Krüppel-Like Factor 2 Is Required for Normal Mouse Cardiac Development

Aditi R. Chiplunkar, Tina K. Lung, Yousef Alhashem, Benjamin A. Koppenhaver, Fadi N. Salloum, Rakesh C. Kukreja, Jack L. Haar, Joyce A. Lloyd

PLoS One. 2013; 8(2): e54891. Published online 2013 Feb 14. doi: 10.1371/journal.pone.0054891

PMCID:: PMC3573061

Abstract Article PDF–4.1M

Select item 343518118.

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

Kasper Lage, Steven C. Greenway, Jill A. Rosenfeld, Hiroko Wakimoto, Joshua M. Gorham, Ayellet V. Segrè, Amy E. Roberts, Leslie B. Smoot, William T. Pu, Alexandre C. Pereira, Sonia M. Mesquita, Niels Tommerup, Søren Brunak, Blake C. Ballif, Lisa G. Shaffer, Patricia K. Donahoe, Mark J. Daly, Jonathan G. Seidman, Christine E. Seidman, Lars A. Larsen

Proc Natl Acad Sci U S A. 2012 Aug 28; 109(35): 14035–14040. Published online 2012 Aug 16. doi: 10.1073/pnas.1210730109

PMCID:: PMC3435181

Abstract Article PDF–1.1M

Select item 338338619.

Is A Shorter Atrioventricular Septal Length An Intermediate Phenotype In The Spectrum Of Non-Syndromic Atrioventricular Septal Defects?

Sonali S. Patel, Larry T. Mahoney, Trudy L. Burns

J Am Soc Echocardiogr. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: J Am Soc Echocardiogr. 2012 Jul; 25(7): 782–789. Published online 2012 Apr 25. doi: 10.1016/j.echo.2012.03.011

PMCID:: PMC3383386

Abstract Article PDF–1.2M

Select item 337897520.

RNT4 3′-UTR Insertion/Deletion Polymorphisms Are Not Associated with Atrial Septal Defect in Chinese Han Population: A Brief Communication

Hui Li, Yu Chen, Bin Zhou, Ying Peng, Wenjuan Bai, Li Rao

DNA Cell Biol. 2012 Jun; 31(6): 1121–1124. doi: 10.1089/dna.2011.1386

PMCID:: PMC3378975

Abstract Article PDF–110K

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